Xeroderma pigmentosum

Definition

Xeroderma pigmentosum is a rare condition passed down through families in which the skin and tissue covering the eye are extremely sensitive to ultraviolet light.

Alternative Names

Causes

Xeroderma pigmentosum is an autosomal recessive disorder. This means you must have two copies of an abnormal gene in order for the disease or trait to develop.

Ultraviolet light, such as from sunlight, damages the genetic material (DNA) in skin cells. Normally, the body repairs this damage. But in persons with xeroderma pigmentosum, the body does not fix the damage. As a result, the skin gets very thin and patches of varying color (splotchy pigmentation) appear.

The condition also causes spidery blood vessels in the skin (telangiectasia) and skin cancer. Skin cancer often occurs before the child is 5 years old.

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